VCF Type: vep_annotated
Report Date: 2025-07-06 00:15
Pipeline: Rare Disease Variant Prioritization v2.0
High Priority Variants
Medium Priority Variants
Low Priority Variants
Total Variants
| CHROM | POS | REF | ALT | SYMBOL | Consequence | gnomAD_AF | CADD_PHRED | REVEL | CLIN_SIG | pathogenicity_score | priority_score | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 0 | 17 | 43044295 | G | A | BRCA1 | stop_gained | NaN | NaN | NaN | Pathogenic | 10.0 | 19.0 |
| 1 | 1 | 230710048 | A | G | AGT | missense_variant | NaN | NaN | NaN | Pathogenic | 10.0 | 17.0 |
| 2 | 17 | 43045677 | C | T | BRCA1 | missense_variant | NaN | NaN | NaN | Likely_pathogenic | 8.0 | 15.0 |
This report is for research purposes. Clinical decisions should involve genetic counseling.